Canonical Allele Identifier: CA345294

Gene: RNASEH2A THSD8 HOOK2

Linked Data

• ClinVar Variation Id: 66066
• ClinVar RCV Id: RCV000056303 ; RCV003155061
• dbSNP Id: rs75718910
• ExAC: 19:12923963 G / A
• gnomAD v2: 19-12923963-G-A
• gnomAD v4: 19-12813149-G-A
• MyVariant Identifiers: chr19:g.12923963G>A (hg19) ; chr19:g.12813149G>A (hg38)
• PubMed: PMID:20301648 ; PMID:21454563 ; PMID:23592335

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12813149G>A , CM000681.2:g.12813149G>A	GRCh38
NC_000019.9:g.12923963G>A , CM000681.1:g.12923963G>A	GRCh37
NC_000019.8:g.12784963G>A	NCBI36
NG_012662.1:g.11536G>A , LRG_278:g.11536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221486.6:c.704G>A (RNASEH2A) MANE Select	ENSP00000221486.4:p.Arg235Gln
ENST00000593017.2:n.990G>A (RNASEH2A)
ENST00000639767.2:c.*583G>A (THSD8)	ENSP00000491410.2:n.*583G>A
ENST00000643757.1:n.739G>A (RNASEH2A)
ENST00000646769.1:c.*364G>A (RNASEH2A)	ENSP00000495175.1:n.*364G>A
ENST00000221486.4:c.704G>A (RNASEH2A)	ENSP00000221486.3:p.Arg235Gln
ENST00000589765.1:n.41+12029C>T (HOOK2)
ENST00000593017.1:n.1119G>A (RNASEH2A)
NM_006397.2:c.704G>A , LRG_278t1:c.704G>A (RNASEH2A)	NP_006388.2:p.Arg235Gln
XM_006722619.2:c.572G>A (RNASEH2A)	XP_006722682.1:p.Arg191Gln
NM_006397.3:c.704G>A (RNASEH2A) MANE Select	NP_006388.2:p.Arg235Gln